Disease of Bernard Soulier
The disease of Bernard Soulier is a blood disease appearing by menorrhagia, épistaxis, gingival bleedings. The important bleedings occur during surgical operations.
Other names
- Syndrome of the giant blood plates
- thrombocytic Dystrophy hémorragipare
Incidence & Prevalence
Etiology
- Change of the Gene GP1BA located at the level of the Chromosome 17.
- Change of the Gene GP1BB located at the level of the Chromosome 22.
- Change of the Gene GP9 located at the level of the Chromosome 3.
Description
Diagnosis
The Temps of bleeding is very lengthened sometimes higher than 20 minutes, the plates are increased and there is no plate aggregation at the time of the addition of ristocètine or factor Willebrand.Assumption of responsibility & Treatment
The genetic Council
Mode of transmission
recessive autosomic TransmissionSources
- Lansa F. Orphanet Encyclopedia * Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MANDELEVIUM. MIM Number: 231200
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